Author

Kai-Uwe Eckardt

University of Freiburg

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Genetic & Genomic Medicine· 1

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Anna KöttgeniD· 1 shared Björn NeubaueriD· 1 shared Carola HunteiD· 1 shared Christophe WirthiD· 1 shared Matthias WuttkeiD· 1 shared Michael KöttgeniD· 1 shared Nora SchereriD· 1 shared Oleg BorisoviD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Anna KöttgenORCID

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1 paper

Recent·Most cited

SLC25A48 is a human mitochondrial choline transporter

Suraj Dasharath Patil, Oleg Borisov, Nora Scherer, Christophe Wirth, Pascal Schlosser, Matthias Wuttke, Kai-Uwe Eckardt, Carola Hunte, Björn Neubauer, Anna Köttgen, Michael Köttgen

This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.

Journal of the American Society of Nephrology · Oct 1, 2024Peer-reviewedGenetic & Genomic Medicine